Results 11 to 20 of about 9,175 (221)
Unexpected macrophage-independent dyserythropoiesis in Gaucher disease
Haematologica, 2016 Gaucher disease is a rare inherited disease caused by a deficiency in glucocerebrosidase leading to lipid accumulation in cells of mononuclear-macrophage lineage known as Gaucher cells.
Nelly Reihani +9 more
doaj +3 more sources
Cytokines in Gaucher disease: Role in the pathogenesis of bone and pulmonary disease
Egyptian Journal of Medical Human Genetics, 2015 Gaucher disease (GD) is the most frequently encountered lysosomal storage disease caused by inborn defects of the membrane-bound lysosomal enzyme, acid β-glucosidase or glucocerebrosidase.
Azza A.G. Tantawy
doaj +2 more sources
Efferocytosis is impaired in Gaucher macrophages
Haematologica, 2017 Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase, is characterized by the presence of glucosylceramide-laden macrophages resulting from impaired digestion of aged erythrocytes or apoptotic leukocytes.
Elma Aflaki +6 more
doaj +3 more sources
Involvement of hepcidin in iron metabolism dysregulation in Gaucher disease
Haematologica, 2018 Gaucher disease (GD) is an inherited deficiency of glucocerebrosidase leading to accumulation of glucosylceramide in tissues such as the spleen, liver, and bone marrow.
Thibaud Lefebvre +10 more
doaj +3 more sources
Hemorrhagic Aspects of Gaucher Disease
Rambam Maimonides Medical Journal, 2014 Gaucher disease (GD) is an inherited lysosomal disorder, originating from deficient activity of the lysosomal enzyme glucocerebrosidase (GCase). Normally, GCase hydrolyzes glucocerebroside (GC) to glucose and ceramide; however, impaired activity of this ...
Hanna Rsenbaum
doaj +2 more sources
Gaucher Disease: A First Reported Adult Case in Indonesia [PDF]
Acta Medica IndonesianaA 44-year-old female presented with a distended abdomen and fatigue. On physical examination, prominent splenomegaly was found. The laboratory investigations revealed pancytopenia and decreased albumin-globulin ratio.
Ardhi Rahman Ahani +6 more
doaj +4 more sources
Erythrophagocytosis in Gaucher Cells
Archives of Pathology & Laboratory Medicine, 2004 The patient was a 62-year-old woman with an approximately 50-year history of Gaucher disease who ...
Asaf, Bitton +3 more
openaire +2 more sources
Journal of Clinical Pathology, 1992 A case of acute lymphoblastic leukaemia, associated with cells resembling Gaucher cells in the bone marrow, is reported. The patient had no evidence of inherited Gaucher's disease and the ultrastructural appearance of the cells was consistent with pseudo-Gaucher cells described in other haematological diseases.
P A, Carrington, R F, Stevens, M, Lendon
openaire +2 more sources
JIMD Reports, 2021 Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease (LSD) in which sphingomyelin accumulates due to deficient acid sphingomyelinase. In the chronic visceral subtype, organ manifestations are generally limited to the spleen, liver, and ...
Eline C. B. Eskes +6 more
doaj +1 more source
Clinical periodontal diagnosis
Periodontology 2000, EarlyView., 2023 Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi +5 more
wiley +1 more source